Cloned (Comment) | Organism |
---|---|
genetic variation in a region of chromosome 10 containing the genes AKR1C1, AKR1C3 and AKR1C4, which encode 3 isoforms of 3alpha-HSD | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
H5Q | a naturally occuring non-synonymous single nucleotide polymorphism (SNP), rs12529 C>G or AKR1C3-2 in exon 1 of AKR1C3 | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P42330 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
17beta-HSD type 5 | - |
Homo sapiens |
3alpha-HSD | - |
Homo sapiens |
3alpha-HSD type 2 | - |
Homo sapiens |
3alpha-hydroxysteroid dehydrogenase | - |
Homo sapiens |
AKR1C3 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | comparison of a common non-synonymous polymorphism, AKR1C3-2 in the gene encoding the enzyme 3alpha-HSD2/17beta-HSD5 and a synonymous SNP, rs248793, in SRD5A1, which encodes 5alpha-reductase: for caucasian males, carriers of the alcohol dependence-protective AK1C3-2 G-allele have higher levels of 5alpha-androstane-3alpha1beta-diol relative to the precursor 3alpha,5alpha-androsterone than C-allele homozygotes. AKR1C3-2 G-allele carriers exhibit greater increases in heart rate and stimulant and sedative effects of alcohol than C-allele homozygotes | Homo sapiens |
physiological function | the enzyme 3alpha-hydroxysteroid dehydrogenase is involved in neuroactive steroid biosynthesis. Genetic variation in a region of chromosome 10 containing the genes AKR1C1, AKR1C3 and AKR1C4, which encode 3 isoforms of 3alpha-HSD, is associated with variation in subjective alcohol response. Enzyme mutant variant H5Q is associated with reduced risk of both alcohol dependence and bladder cancer, moderates the stimulant or sedative effects of alcohol | Homo sapiens |